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723612001: syndrome d'amyotrophie spinale-malformation de Dandy-Walker-cataracte (trouble)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3425260014 Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3425261013 Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
759841000241112 syndrome d'amyotrophie spinale-malformation de Dandy-Walker-cataracte (trouble) fr Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
938831000172111 syndrome d'amyotrophie spinale-malformation de Dandy-Walker-cataracte fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3425262018 Syndrome with characteristics of infantile symmetrical distal muscle weakness and atrophy of the lower limbs, bilateral anterior polar cataracts and Dandy-Walker malformation. It has been described in two brothers. No sensorineural or cognitive deficits were observed. The karyotypes of the two patients were normal. No mutations were found in the survival motor neurone (SMN), neuronal apoptosis inhibitory protein (NAIP) or androgen receptor genes. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 4
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) localisation d'une constatation (attribut) Structure of anterior pole of lens true Inferred relationship Some 1
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) localisation d'une constatation (attribut) Cerebellar vermis structure true Inferred relationship Some 3
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 5
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 3
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) morphologie associée (attribut) Congenital cavitation (morphologic abnormality) false Inferred relationship Some 4
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) morphologie associée (attribut) Hypoplasia (morphologic abnormality) true Inferred relationship Some 3
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) localisation d'une constatation (attribut) Fourth ventricle structure false Inferred relationship Some 4
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) morphologie associée (attribut) Congenital malrotation (morphologic abnormality) true Inferred relationship Some 2
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) localisation d'une constatation (attribut) Cerebellar vermis structure true Inferred relationship Some 2
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) morphologie associée (attribut) Cataract false Inferred relationship Some 1
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) morphologie associée (attribut) Cystic dilatation true Inferred relationship Some 5
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) morphologie associée (attribut) Cystic dilatation true Inferred relationship Some 4
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) morphologie associée (attribut) opacité true Inferred relationship Some 1
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) localisation d'une constatation (attribut) Fourth ventricle structure true Inferred relationship Some 5
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) localisation d'une constatation (attribut) Infratentorial brain structure true Inferred relationship Some 4
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) est un(e) (attribut) syndrome de Dandy-Walker true Inferred relationship Some
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) est un(e) (attribut) syndrome de malformations multisystémiques true Inferred relationship Some
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) est un(e) (attribut) Distal spinal muscular atrophy true Inferred relationship Some
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) est un(e) (attribut) Congenital anterior polar cataract true Inferred relationship Some
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) est un(e) (attribut) Hereditary disorder of the visual system true Inferred relationship Some
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 5
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 7
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 9
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) morphologie associée (attribut) Aplasia false Inferred relationship Some 6
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 6
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) localisation d'une constatation (attribut) Cerebellar vermis structure false Inferred relationship Some 6
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) morphologie associée (attribut) Congenital anomaly false Inferred relationship Some 5
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) localisation d'une constatation (attribut) Cerebellar vermis structure false Inferred relationship Some 5
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) localisation d'une constatation (attribut) Lateral aperture of fourth ventricle false Inferred relationship Some 5
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) localisation d'une constatation (attribut) Foramen of Magendie false Inferred relationship Some 5
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) morphologie associée (attribut) Congenital cataract false Inferred relationship Some 7
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) localisation d'une constatation (attribut) Structure of anterior pole of lens false Inferred relationship Some 7
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) morphologie associée (attribut) Congenital dilatation (morphologic abnormality) false Inferred relationship Some 9
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) localisation d'une constatation (attribut) Brain cerebrospinal fluid pathway false Inferred relationship Some 9
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) morphologie associée (attribut) Congenital cavitation (morphologic abnormality) false Inferred relationship Some 8
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) localisation d'une constatation (attribut) Infratentorial brain structure false Inferred relationship Some 8
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) morphologie associée (attribut) Congenital cavitation (morphologic abnormality) false Inferred relationship Some 5
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) localisation d'une constatation (attribut) Infratentorial brain structure false Inferred relationship Some 5

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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